Canonical Allele Identifier: CA408702390

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33523432T>G (hg19) ; chr20:g.34935629T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34935629T>G , CM000682.2:g.34935629T>G	GRCh38
NC_000020.10:g.33523432T>G , CM000682.1:g.33523432T>G	GRCh37
NC_000020.9:g.32987093T>G	NCBI36
NG_008848.1:g.25170A>C
NG_008848.2:g.25399A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*474+1134A>C	ENSP00000493524.1:n.*474+1134A>C
ENST00000642498.1:c.781A>C	ENSP00000493631.1:p.Ile261Leu
ENST00000642538.1:c.*125A>C	ENSP00000493927.1:n.*125A>C
ENST00000643188.1:c.781A>C	ENSP00000493903.1:p.Ile261Leu
ENST00000643443.1:c.*488A>C	ENSP00000495572.1:n.*488A>C
ENST00000643502.1:c.438A>C
ENST00000643908.1:n.1052+1314A>C
ENST00000644538.1:n.1058A>C
ENST00000644793.1:c.781A>C	ENSP00000495750.1:p.Ile261Leu
ENST00000645328.1:c.159A>C
ENST00000645408.1:c.367+1134A>C
ENST00000645723.1:n.2020A>C
ENST00000646405.1:c.*252+1134A>C	ENSP00000493744.1:n.*252+1134A>C
ENST00000646497.1:n.726A>C
ENST00000646502.1:n.1263A>C
ENST00000646512.1:n.980+1134A>C
ENST00000646735.1:c.448A>C	ENSP00000493763.1:p.Ile150Leu
ENST00000646766.1:c.*411A>C	ENSP00000494333.1:n.*411A>C
ENST00000651619.1:c.781A>C MANE Select	ENSP00000498303.1:p.Ile261Leu
ENST00000216951.6:c.781A>C	ENSP00000216951.2:p.Ile261Leu
ENST00000451957.2:c.448A>C	ENSP00000407517.2:p.Ile150Leu
NM_000178.2:c.781A>C	NP_000169.1:p.Ile261Leu
XM_005260406.3:c.781A>C	XP_005260463.1:p.Ile261Leu
XM_011528796.1:c.781A>C	XP_011527098.1:p.Ile261Leu
NM_000178.4:c.781A>C MANE Select	NP_000169.1:p.Ile261Leu
NM_001322494.1:c.781A>C	NP_001309423.1:p.Ile261Leu
NM_001322495.1:c.781A>C	NP_001309424.1:p.Ile261Leu